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De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

Christian Babbs, Deborah Lloyd, Alistair T Pagnamenta, Stephen R F Twigg, Joanne Green, Simon J McGowan, Ghazala Mirza, Rebecca Naples, Vikram P Sharma, Emanuela V Volpi, Veronica J Buckle, Steven A Wall, Samantha J L Knight, International Molecular Genetic Study of Autism Consortium (IMGSAC), Jeremy R Parr, Andrew O M Wilkie

J Med Genet. 2014 Nov; 51(11): 737–747. Published online 2014 Sep 16. doi: 10.1136/jmedgenet-2014-102582

PMCID:: PMC4215269

Abstract Article PDF–4.2M

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PMC Links for Nucleotide (Select 953267328) (1)
PMC
kinase suppressor of Ras 2 isoform X2 [Microcebus murinus]
kinase suppressor of Ras 2 isoform X2 [Microcebus murinus]
gi|830006214|ref|XP_012611916.1|

Protein
PREDICTED: Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), transcript ...
PREDICTED: Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), transcript variant X1, mRNA
gi|2462548294|ref|XM_054379978.1|

Nucleotide
RecName: Full=3-phosphoshikimate 1-carboxyvinyltransferase; AltName: Full=5-enol...
RecName: Full=3-phosphoshikimate 1-carboxyvinyltransferase; AltName: Full=5-enolpyruvylshikimate-3-phosphate synthase; Short=EPSP synthase; Short=EPSPS
gi|123179227|sp|Q1BCB0.1|AROA_MYCSS

Protein
GPL20864[RGSE] (7)
GEO DataSets

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